Neurofibromatosis 1 - Therapy
Research News and Information

Sunday, November 22, 2009

Bone sarcomas arising in patients with neurofibromatosis type 1.

30 Aug 2009 We identified eight patients of 2900 with a primary malignant bone tumour who had coexisting neurofibromatosis type 1. This was a much higher incidence than would be expected by chance. The patients had a mean age of 22.4 years (9 to 54): five were ... Read more...

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

29 Apr 2009 Neurofibromatosis type 1 (NF1) is a familial tumour syndrome. Malignant tumours can arise in the nervous and non-nervous system in either childhood or adulthood, with malignant peripheral nerve sheath tumours being most common. Rhabdomyosarcoma and ... Read more...

Neurofibromatosis.

15 Mar 2009 Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the ... Read more...

Latest indexed articles for 'Neurofibromatosis 1 - Therapy'

These are the very latest articles for this heading:

• Bone sarcomas arising in patients with neurofibromatosis type 1. 30 Aug 2009
• Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. 29 Apr 2009
• Neurofibromatosis. 15 Mar 2009
• Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. 27 Feb 2009
• Neurofibromatosis type 1 revisited. 30 Dec 2008
• Patient and physician attitudes regarding clinical trials in neurofibromatosis 1. 29 Nov 2008
• Neurofibromatosis: emerging phenotypes, mechanisms and management. 29 Nov 2008
• Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies. 29 Sep 2008
• Case report on a patient with neurofibromatosis type 1 and a frontal cystic glioblastoma. 29 Jun 2008
• Intrathoracic malignant peripheral nerve sheath tumor in neurofibromatosis 1. 29 Apr 2008
• Health supervision for children with neurofibromatosis. 28 Feb 2008
• [Therapeutic difficulties in soft tissue sarcoma occurring in children with neurofibromatosis type 1 - own observations] 30 Dec 2007
• Neurofibromatosis complicated with meningoencephalocele: one case report. 3 Dec 2007
• [Accessibility and quality of Italian health and social services: the experiences of patients with neurofibromatosis type 1 and of their relatives] 30 Aug 2007
• Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program. 15 Aug 2007
• [Neurofibromatosis type 1 in children. Experiences of the Gdansk Paediatric Oncohaematology Centre. Preliminary results] 29 Jun 2007
• [Hemothorax associated with von Recklinghausen's disease; report of a case] 29 Jun 2007
• Update on the management of familial central nervous system tumor syndromes. 29 Apr 2007
• Soft-tissue sarcomas in children and adolescents with neurofibromatosis type 1. 30 Mar 2007
• Orbital embryonal rhabdomyosarcoma in association with neurofibromatosis type 1. 27 Feb 2007

See a longer list of these articles.

Technical information about 'Neurofibromatosis 1'

Definition: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Descriptor UI: D009456

Alternative terms: Neurofibromatosis 1; NF1 (Neurofibromatosis 1); Recklinghausens Disease of Nerve; Recklinghausen's Disease of Nerve; Recklinghausen Disease, Nerve; von Recklinghausen Disease; von Recklinghausen's Disease; von Recklinghausens Disease; Neurofibromatosis, Peripheral, NF 1; Peripheral Neurofibromatosis; Neurofibromatoses, Peripheral; Neurofibromatosis, Peripheral; Peripheral Neurofibromatoses; Neurofibromatosis I; Neurofibromatosis Type I; I, Neurofibromatosis Type; Type I, Neurofibromatosis; Neurofibromatosis Type 1; Type 1, Neurofibromatosis; Neurofibromatosis, Type 1; Type 1 Neurofibromatosis; Neurofibromatosis, Type I; Neurofibromatoses, Type I; Type I Neurofibromatoses; Neurofibromatosis, Peripheral, NF1; Recklinghausen Disease of Nerve; Watson Syndrome; Syndrome, Watson;

Related Mesh Headings: Noonan Syndrome; Genes, Neurofibromatosis 1; Neurofibromin 1; LEOPARD Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C04.557.580.600.580.590.650; C04.700.645.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.645.650;

History Note: 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991

Technical Notes: do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant